Cone-rod retinal dystrophy and Duane retraction syndrome in a patient with achondroplasia

Medhat F. Guirgis, Shilpa S. Thornton, Lawrence Tychsen, Gregg T. Lueder

Research output: Contribution to journalArticle

10 Scopus citations

Abstract

Achondroplasia is a congenital disorder of bone formation characterized by short stature, craniofacial malformations, and vertebral anomalies. It is often identified in early infancy by radiographic findings that include short proximal long bones, lumbar lordosis, cube-shaped vertebrae, small pelvic bones, and large crania. In addition, patients have characteristic faces with frontal bossing and flat nasal bridge, and they often have hearing deficits, kyphosis, and progressive spinal stenosis. Ophthalmic features, including telecanthus, strabismus, and anterior chamber anomalies, are frequently found. We report a patient with achondroplasia who presented with Duane retraction syndrome and progressive cone-rod retinal dystrophy. We found no previous reports of either association in a MEDLINE search of the literature.

Original languageEnglish
Pages (from-to)400-401
Number of pages2
JournalJournal of AAPOS
Volume6
Issue number6
DOIs
StatePublished - Jan 1 2002

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